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Aliases for PLEKHA6 Gene

Aliases for PLEKHA6 Gene

  • Pleckstrin Homology Domain Containing A6 2 3 5
  • Pleckstrin Homology Domain Containing, Family A Member 6 2 3
  • Phosphoinositol 3-Phosphate-Binding Protein 3 3 4
  • PH Domain-Containing Family A Member 6 3 4
  • PEPP-3 3 4
  • PEPP3 3 4
  • Phosphoinositol 3-Phosphate-Binding Protein-3 3
  • KIAA0969 4

External Ids for PLEKHA6 Gene

Previous GeneCards Identifiers for PLEKHA6 Gene

  • GC01M200919
  • GC01M202454
  • GC01M204187
  • GC01M175352

Summaries for PLEKHA6 Gene

GeneCards Summary for PLEKHA6 Gene

PLEKHA6 (Pleckstrin Homology Domain Containing A6) is a Protein Coding gene. An important paralog of this gene is PLEKHA5.

Gene Wiki entry for PLEKHA6 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA6 Gene

Genomics for PLEKHA6 Gene

Regulatory Elements for PLEKHA6 Gene

Promoters for PLEKHA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEKHA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLEKHA6 Gene

Chromosome:
1
Start:
204,218,851 bp from pter
End:
204,377,763 bp from pter
Size:
158,913 bases
Orientation:
Minus strand

Genomic View for PLEKHA6 Gene

Genes around PLEKHA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA6 Gene

Proteins for PLEKHA6 Gene

  • Protein details for PLEKHA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2H5-PKHA6_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 6
    Protein Accession:
    Q9Y2H5
    Secondary Accessions:
    • A7MD51
    • Q5VTI6

    Protein attributes for PLEKHA6 Gene

    Size:
    1048 amino acids
    Molecular mass:
    117128 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76813.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHA6 Gene

neXtProt entry for PLEKHA6 Gene

Proteomics data for PLEKHA6 Gene at MOPED

Post-translational modifications for PLEKHA6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLEKHA6 Gene

Domains & Families for PLEKHA6 Gene

Gene Families for PLEKHA6 Gene

Protein Domains for PLEKHA6 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y2H5

UniProtKB/Swiss-Prot:

PKHA6_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PLEKHA6: view

Function for PLEKHA6 Gene

genes like me logo Genes that share phenotypes with PLEKHA6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLEKHA6

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA6 Gene

Localization for PLEKHA6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHA6 Gene COMPARTMENTS Subcellular localization image for PLEKHA6 gene
Compartment Confidence
cytosol 4
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLEKHA6 Gene

Pathways & Interactions for PLEKHA6 Gene

SuperPathways for PLEKHA6 Gene

No Data Available

Interacting Proteins for PLEKHA6 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000272203%0d%0a9606.ENSP00000347560%0d%0a9606.ENSP00000003084%0d%0a
Selected Interacting proteins: ENSP00000272203 Q9Y2H5-PKHA6_HUMAN for PLEKHA6 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for PLEKHA6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PLEKHA6 Gene

Drugs & Compounds for PLEKHA6 Gene

No Compound Related Data Available

Transcripts for PLEKHA6 Gene

Unigene Clusters for PLEKHA6 Gene

Pleckstrin homology domain containing, family A member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA6 Gene

No ASD Table

Relevant External Links for PLEKHA6 Gene

GeneLoc Exon Structure for
PLEKHA6
ECgene alternative splicing isoforms for
PLEKHA6

Expression for PLEKHA6 Gene

mRNA expression in normal human tissues for PLEKHA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHA6 Gene

This gene is overexpressed in Liver (13.7), Plasma (8.7), Placenta (6.4), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLEKHA6 Gene



SOURCE GeneReport for Unigene cluster for PLEKHA6 Gene Hs.253146

mRNA Expression by UniProt/SwissProt for PLEKHA6 Gene

Q9Y2H5-PKHA6_HUMAN
Tissue specificity: Highly expressed in heart, kidney and throughout the brain.
genes like me logo Genes that share expression patterns with PLEKHA6: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PLEKHA6 Gene

Orthologs for PLEKHA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA6 35
  • 99.65 (n)
  • 99.81 (a)
PLEKHA6 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHA6 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA6 36
  • 83 (a)
OneToOne
PLEKHA6 35
  • 90.24 (n)
  • 92.08 (a)
mouse
(Mus musculus)
Mammalia Plekha6 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHA6 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA6 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA6 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHA6 36
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PLEKHA6 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34383 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for PLEKHA6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHA6 Gene

ENSEMBL:
Gene Tree for PLEKHA6 (if available)
TreeFam:
Gene Tree for PLEKHA6 (if available)

Paralogs for PLEKHA6 Gene

Paralogs for PLEKHA6 Gene

genes like me logo Genes that share paralogs with PLEKHA6: view

Variants for PLEKHA6 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10900571 - 204,268,288(+) GGCGA(C/T)GGCTT reference, missense, utr-variant-5-prime
rs10900562 - 204,230,486(+) TCTCC(C/T)TCATG reference, missense
rs10549 -- 204,221,288(-) AATTC(C/T)TCTGC utr-variant-3-prime
rs938127 -- 204,375,670(-) tcatc(A/G)agtct intron-variant
rs938128 -- 204,375,668(-) atcga(A/G)tctgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA6 Gene

Variant ID Type Subtype PubMed ID
nsv820074 CNV Gain 19587683
esv2449168 CNV Insertion 19546169
esv267741 CNV Insertion 20981092
esv273255 CNV Insertion 20981092
esv2659081 CNV Deletion 23128226
esv3210 CNV Deletion 18987735
esv2666096 CNV Deletion 23128226
esv6345 CNV Loss 19470904
nsv818778 CNV Gain 17921354

Variation tolerance for PLEKHA6 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHA6 Gene

HapMap Linkage Disequilibrium report
PLEKHA6
Human Gene Mutation Database (HGMD)
PLEKHA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA6 Gene

Disorders for PLEKHA6 Gene

Relevant External Links for PLEKHA6

Genetic Association Database (GAD)
PLEKHA6
Human Genome Epidemiology (HuGE) Navigator
PLEKHA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHA6

No disorders were found for PLEKHA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA6 Gene

Publications for PLEKHA6 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S.J. … Alessi D.R. (Biochem. J. 2000) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Pleckstrin homology domain containing 6 protein (PLEKHA6) polymorphisms are associated with psychopathology and response to treatment in schizophrenic patients. (PMID: 24576533) Spellmann I. … Riedel M. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2014) 3

Products for PLEKHA6 Gene

Sources for PLEKHA6 Gene

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